Pseudo-orthostatic and resting leg tremor in a large Spanish family with homozygous truncating parkin mutation.
Infante
Jon
J
Berciano
José
J
Sánchez-Juan
Pascual
P
García
Antonio
A
Di Fonzo
Alessio
A
Breedveld
Guido
G
Oostra
Ben
B
Bonifati
Vincenzo
V
D000328:Adult; D017668:Age of Onset; D000978:Antiparkinson Agents / Q000627:therapeutic use; D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D020734:Parkinsonian Disorders / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D013030:Spain / Q000453:epidemiology; D014202:Tremor / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics* / Q000502:physiology
D000978:Antiparkinson Agents; D018389:Codon, Nonsense; D007980:Levodopa; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein